Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

55 matching diseasesClear search ×

Rare genetic tremor disorder

ORPHA:307061

Rare hyperkinetic movement disorder

ORPHA:494457

Rare movement disorder

ORPHA:102003

Rare parkinsonian disorder

Rare hypokinetic movement disorder

ORPHA:68402

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

ORPHA:329224

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

ORPHA:325546